Literature DB >> 33278153

Recent developments in Phelan-McDermid syndrome research: an update on cognitive development, communication and psychiatric disorders.

Annick Vogels1,2, Gilles Droogmans3, Elfi Vergaelen4, Griet Van Buggenhout1,2, Ann Swillen1,2.   

Abstract

PURPOSE OF REVIEW: The purpose of this review is to summarize the literature on cognitive development, communication, behavioral or psychiatric aspects in Phelan-McDermid syndrome (PMS) and to discuss the clinical implications and recommendations of these summarized findings. RECENT
FINDINGS: PMS is often associated with severe communication impairments, behavioral or psychiatric problems and regression. These challenges may adversely affect and impair the quality of life of the individual with PMS and his family.
SUMMARY: Individuals with PMS experience intellectual disability, communication and behavioral/psychiatric challenges, such as catatonia, bipolar disorder and regression across the lifespan. Providing appropriate guidance and support to them and their families demands a better understanding of these challenges.
Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.

Entities:  

Year:  2021        PMID: 33278153     DOI: 10.1097/YCO.0000000000000672

Source DB:  PubMed          Journal:  Curr Opin Psychiatry        ISSN: 0951-7367            Impact factor:   4.741


  3 in total

1.  Understanding Behavior in Phelan-McDermid Syndrome.

Authors:  Annemiek M Landlust; Linda Visser; Boudien C T Flapper; Selma A J Ruiter; Renée J Zwanenburg; Conny M A van Ravenswaaij-Arts; Ingrid D C van Balkom
Journal:  Front Psychiatry       Date:  2022-05-26       Impact factor: 5.435

2.  The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions.

Authors:  Jennifer Cooke; Ciara J Molloy; Antonia San José Cáceres; Thomas Dinneen; Thomas Bourgeron; Declan Murphy; Louise Gallagher; Eva Loth
Journal:  Front Neurosci       Date:  2022-02-18       Impact factor: 4.677

3.  Phelan-McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses.

Authors:  Liang Chen; Zhi-Ye Yao; Xiangtao Wu; Shao-Ru He; Yu-Mei Liu; Xue-Yan Wang; De-Zhi Cao; Xing-Kun Yang; Jian-Bo Zhao; Zi Ren; Hong Li; Zheng Pei; Hong-Ke Ding; Zhi-Chun Feng
Journal:  Front Pediatr       Date:  2022-08-23       Impact factor: 3.569

  3 in total

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